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mmterpstra / molgenis-c5-TumorNormal

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Splice site annotations #14

Closed mmterpstra closed 7 years ago

mmterpstra commented 8 years ago

Splice site Annotations are not handled correctly by the GATK VariantAnnotator:

mmterpstra commented 8 years ago

Current problems with splice sites:

  1. GATK VariantAnnotator Cannot handle correct annotations
  2. Filters out splice variants, because of 1.
  3. Denovo splice donors/acceptors not predicted.
mmterpstra commented 8 years ago

1/2 fixed with commit 01bd1fc